A paediatric neurologist with strong academic roots in Hyderabad has been part of a medical breakthrough in Australia, where an eight-month-old baby has become the first person in the world to receive a precision medicine treatment for a rare and often fatal form of epilepsy.
Dr Kavitha Kothur, a paediatric neurologist at The Children’s Hospital at Westmead in Sydney, was among the doctors and researchers who identified the genetic cause of the eight-month old baby Bohdi Higginson’s condition and helped find a potential targeted treatment. Bohdi, from the NSW Central Coast, had begun suffering seizures at just three months of age, with as many as 74 seizures recorded in a single day.
The baby was diagnosed with KCNT1-related catastrophic epilepsy, an ultra-rare genetic disorder for which there was previously no known effective treatment. Doctors found that conventional medicines were not controlling his seizures and that he was losing developmental milestones. Only 18 cases of the disorder have been recorded in Australia.
It was at this critical juncture that Dr Kavitha and her team investigated Bohdi’s genetic diagnosis and identified a treatment developed overseas. The drug had shown promise in animal studies but had never previously been administered to a child with epilepsy. Through the Sydney Children’s Hospitals Network’s Innovative Therapies Pathway, the multidisciplinary team was able to fast-track the assessment and access to the treatment.
Bohdi received his first dose on April 21 and, remarkably, had his final seizure three days later. He has continued receiving the treatment and remains under monitoring to determine its long-term effects. Dr Kavitha described administering the treatment as both exciting and daunting, given that it had never before been used in a patient with epilepsy.
For Hyderabad, the breakthrough carries a special connection. Dr Kavitha pursued her medical education in the city, completing her MBBS at Gandhi Medical College. She subsequently stood first in the State in the postgraduate medical examination, went on to complete her MD in Paediatrics at PGI Chandigarh and later specialised in paediatric neurology. Her current work in Sydney combines clinical practice with research, particularly in paediatric epilepsy, genetics and neurological disorders.
According to Dr Kavitha, advances in genetic testing are giving us an unprecedented opportunity to understand the precise cause of rare diseases and identify treatments that target the underlying problem. “This opens the door to highly targeted treatments, not only gene therapies, but also medicines designed to correct a specific abnormal biological pathway. When conventional treatments fail, we need to be prepared to think differently, collaborate widely and explore new possibilities. But innovation must always happen within a careful clinical and ethical framework, with patient safety at the centre and families fully involved throughout the journey. Bohdi’s story shows what can become possible when families, clinicians and researchers work together,” she concludes.
